Canonical Allele Identifier: CA2260777964
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43082422_43082430delinsGTTCTGGAT , CM000679.2:g.43082422_43082430delinsGTTCTGGAT GRCh38
NC_000017.10:g.41234439_41234447delinsGTTCTGGAT , CM000679.1:g.41234439_41234447delinsGTTCTGGAT GRCh37
NC_000017.9:g.38487965_38487973delinsGTTCTGGAT NCBI36
NG_005905.2:g.135554_135562delinsATCCAGAAC , LRG_292:g.135554_135562delinsATCCAGAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4331_4339delinsATCCAGAAC ENSP00000417241.2:p.Asn1444=
ENST00000470026.6:c.4331_4339delinsATCCAGAAC ENSP00000419274.2:p.Asn1444=
ENST00000473961.6:c.4205_4213delinsATCCAGAAC ENSP00000420201.2:p.Asn1402=
ENST00000476777.6:c.4325_4333delinsATCCAGAAC ENSP00000417554.2:p.Asn1442=
ENST00000477152.6:c.4253_4261delinsATCCAGAAC ENSP00000419988.2:p.Asn1418=
ENST00000478531.6:c.1019_1027delinsATCCAGAAC ENSP00000420412.2:p.Asn340=
ENST00000489037.2:c.4253_4261delinsATCCAGAAC ENSP00000420781.2:p.Asn1418=
ENST00000493919.6:c.881_889delinsATCCAGAAC ENSP00000418819.2:p.Asn294=
ENST00000494123.6:c.4331_4339delinsATCCAGAAC ENSP00000419103.2:p.Asn1444=
ENST00000497488.2:c.3443_3451delinsATCCAGAAC ENSP00000418986.2:p.Asn1148=
ENST00000618469.2:c.4331_4339delinsATCCAGAAC ENSP00000478114.2:p.Asn1444=
ENST00000634433.2:c.4208_4216delinsATCCAGAAC ENSP00000489431.2:p.Asn1403=
ENST00000644379.2:c.4331_4339delinsATCCAGAAC ENSP00000496570.2:p.Asn1444=
ENST00000644555.2:c.881_889delinsATCCAGAAC ENSP00000494614.2:p.Asn294=
ENST00000652672.2:c.4190_4198delinsATCCAGAAC ENSP00000498906.2:p.Asn1397=
ENST00000484087.6:c.896_904delinsATCCAGAAC ENSP00000419481.2:p.Asn299=
ENST00000700182.1:c.941_949delinsATCCAGAAC ENSP00000514849.1:p.Asn314=
ENST00000357654.9:c.4331_4339delinsATCCAGAAC MANE Select ENSP00000350283.3:p.Asn1444=
ENST00000471181.7:c.4331_4339delinsATCCAGAAC ENSP00000418960.2:p.Asn1444=
ENST00000644379.1:c.652_660delinsATCCAGAAC
ENST00000352993.7:c.905_913delinsATCCAGAAC ENSP00000312236.5:p.Asn302=
ENST00000357654.7:c.4331_4339delinsATCCAGAAC ENSP00000350283.3:p.Asn1444=
ENST00000461221.5:c.*4114_*4122delinsATCCAGAAC ENSP00000418548.1:n.*4114_*4122delinsATCCAGAAC
ENST00000461574.1:c.625_633delinsATCCAGAAC
ENST00000468300.5:c.1022_1030delinsATCCAGAAC ENSP00000417148.1:p.Asn341=
ENST00000471181.6:c.4331_4339delinsATCCAGAAC ENSP00000418960.2:p.Asn1444=
ENST00000478531.5:c.1019_1027delinsATCCAGAAC ENSP00000420412.1:p.Asn340=
ENST00000484087.5:c.644_652delinsATCCAGAAC ENSP00000419481.1:p.Asn215=
ENST00000487825.5:c.647_655delinsATCCAGAAC ENSP00000418212.1:p.Asn216=
ENST00000491747.6:c.1022_1030delinsATCCAGAAC ENSP00000420705.2:p.Asn341=
ENST00000493795.5:c.4190_4198delinsATCCAGAAC ENSP00000418775.1:p.Asn1397=
ENST00000493919.5:c.881_889delinsATCCAGAAC ENSP00000418819.1:p.Asn294=
ENST00000586385.5:c.5-18479_5-18471delinsATCCAGAAC ENSP00000465818.1:n.5-18479_5-18471delinsATCCAGAAC
ENST00000591534.5:c.-43-7909_-43-7901delinsATCCAGAAC ENSP00000467329.1:n.-43-7909_-43-7901delinsATCCAGAAC
ENST00000591849.5:c.-98-32240_-98-32232delinsATCCAGAAC ENSP00000465347.1:n.-98-32240_-98-32232delinsATCCAGAAC
ENST00000621897.1:n.225_233delinsATCCAGAAC
NM_007294.3:c.4331_4339delinsATCCAGAAC , LRG_292t1:c.4331_4339delinsATCCAGAAC NP_009225.1:p.Asn1444=
NM_007297.3:c.4190_4198delinsATCCAGAAC NP_009228.2:p.Asn1397=
NM_007298.3:c.1022_1030delinsATCCAGAAC NP_009229.2:p.Asn341=
NM_007299.3:c.1022_1030delinsATCCAGAAC NP_009230.2:p.Asn341=
NM_007300.3:c.4331_4339delinsATCCAGAAC NP_009231.2:p.Asn1444=
NR_027676.1:n.4467_4475delinsATCCAGAAC
NM_007294.4:c.4331_4339delinsATCCAGAAC MANE Select NP_009225.1:p.Asn1444=
NM_007297.4:c.4190_4198delinsATCCAGAAC NP_009228.2:p.Asn1397=
NM_007299.4:c.1022_1030delinsATCCAGAAC NP_009230.2:p.Asn341=
NM_007300.4:c.4331_4339delinsATCCAGAAC NP_009231.2:p.Asn1444=
NR_027676.2:n.4508_4516delinsATCCAGAAC